Understanding Primary Immunodeficiency Disorders

This observational study aims to learn more about Primary Immunodeficiency Disorders (PIDs), which are conditions that weaken the immune system. Researchers want to understand the genetic causes of PIDs and how these conditions affect people over time. You can participate if you have a PID, are a healthy biological relative of someone with a PID, or are a healthy volunteer. The study will look for unique clinical features linked to known genetic causes of PID and identify new genetic variations associated with PID. The study's success will be measured by these discoveries over 10-15 years. The current recruitment status is unclear.

Study design
This is an observational study with a planned enrollment of 2500 participants, including individuals with PID, their healthy relatives, and healthy volunteers.
What's involved
You will have a medical history taken, a physical exam, and an HIV blood test. You may also have a pregnancy test. You may be asked to provide one or more blood samples for immunologic and genetic investigations.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed clinically over time to assess their immune system, clinical disease, and response to therapies. The study aims to identify outcomes over 10-15 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03394053

The Mechanistic Biology of Primary Immunodeficiency Disorders

Recruiting
Not specifiedAges 1–90Observational
National Institute of Allergy and Infectious Diseases (NIAID)
~2,500 participants
Updated 2026-08-17 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Identification of unique clinical phenotypes associated with known genetic causes of PID.
Measured over 10- 15 years
+1 more outcome measured
Primary Immunodeficiency Disorders
2 sites across 2 states
District of Columbia1
Maryland1
  • Luigi D Notarangelo, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

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  • Identification of unique clinical phenotypes associated with known genetic causes of PID.10- 15 years

    comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.

  • Identification of genetic variants that are associated with PID.10-15 years

    comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.